Tuberous Sclerosis

A 6-month-old infant is brought to the emergency department after the parent noticed symmetric and synchronous spasmodic movement of the neck, trunk, and extremities. Hypopigmented area of the skin is notable on physical examination, which can be better visualized on Wood’s lamp. Hypsarrhythmia is seen on EEG.

Introduction

Tuberous sclerosis

neurocutaneous autosomal dominant disease

mutation in either TSC1 (encodes hamartin on chromosome 9) and TSC2 (encodes tuberin on chromosome 16) is associated with tuberous sclerosis

normally, hamartin and tuberin form a complex that down regulates mTOR signaling

characterized by hamartoma and benign neoplasm development in the brain and various tissues

cerebral cortex

cortical hamartomas (“tubers”)

associated with seizures, which are difficult to control with seizure treatment

(M1.NE.72)
A one-year-old boy presents to your office accompanied by his father. On examination of the boy, you observe the findings shown in Figure A. The appearance of his father's face is depicted in Figure B.